What is the MTHFR gene and how does mutation in MTHFR affect fertility? The MTHFR gene lives within every cell in the human body, and it’s responsible for breaking down folate that you ingest through your diet (by the vitamin B folic acid) and utilizes it to form methylfolate. The body cannot produce folate on its own, therefore it must be obtained through diet.
The body needs vitamin B9 in order to repair DNA, help with the division of cells, produce red blood cells, and aid neural transmitters. In terms of fertility, it is absolutely essential for a healthy fetal development.
Yet, it has been determined that nearly half of women have a genetic mutation, a variation, with their MTHFR gene that hinders the way that their body breaks down and benefits from folic acid, preventing their body from getting the benefits that it needs.
What Is The MTHFR Defect?
A mutation to the MTHFR gene (which is short for Methylenetetrahydrofolate reductase), or MTHFR C677T. For women of childbearing age, it is critical for the body’s utilization of Folic Acid. Those with this gene defect will likely have to take supplements to help their body get the needed B vitamins to assist with fetal development. This is something easily diagnosed with a doctor, and should not be self-prescribed as taking methylfolate without a doctor’s supervision can cause harm.
MTHFR And Fetal Development
Everyone has heard that prenatal vitamins, and Folic Acid is essential to take once you learn that you are pregnant, and preferably in the months before you start trying to conceive. Folic Acid is critical to the development of a healthy fetus during pregnancy, especially during early pregnancy and the development of the spinal column. Folic Acid is a key in preventing spina bifida, a neural tube defect.
In addition, for those with difficulty in breaking down Folic Acid, it can lead to serious fertility issues including reoccurring miscarriages, infertility, and difficulty with conception.
How Can You Be Tested?
If you’ve been having difficulties conceiving or remaining pregnant, schedule an appointment with your doctor to discuss all your issues and concerns. A MTHFR genetic test may be ordered when a woman has higher than normal homocysteine levels, a history or family history of thrombosis or cardiovascular disease, or when there is a known family history of a MTHFR mutation. There are different variations of the MTHFR defect, so it is essential that you discuss concerns, testing and treatment with your doctor.